Pyruvate carboxylase deficiency, infantile type
ORPHA:353308· ICD-10 E74.4
Definition
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy